|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.
|
28681392 |
2017 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
|
26337637 |
2016 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
|
27484170 |
2016 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
|
27238887 |
2016 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
|
25544017 |
2015 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
|
25917897 |
2015 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
|
24767283 |
2014 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
|
24451042 |
2014 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.
|
23457302 |
2013 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
|
23813970 |
2013 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Tegumentary manifestations of Noonan and Noonan-related syndromes.
|
24037001 |
2013 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Delayed primary diagnosis of LEOPARD syndrome type 1.
|
23317994 |
2013 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.
|
22411627 |
2012 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
|
22585553 |
2012 |
|
rs121918457
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
|
21910245 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
|
19825837 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
|
20535210 |
2010 |